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Cytochrome c oxidase activity in single muscle fibers: assay techniques and diagnostic applications.
Johnson MA, Bindoff LA, Turnbull DM. Johnson MA, et al. Among authors: bindoff la. Ann Neurol. 1993 Jan;33(1):28-35. doi: 10.1002/ana.410330106. Ann Neurol. 1993. PMID: 8388186
Late-onset mitochondrial disorder with electromyographic evidence of myotonia.
Howse ML, Wardell TM, Fisher CJ, Tilley PJ, Chinnery PF, Bindoff L. Howse ML, et al. Among authors: bindoff l. Muscle Nerve. 2003 Dec;28(6):757-9. doi: 10.1002/mus.10492. Muscle Nerve. 2003. PMID: 14639592 Clinical Trial.
Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.
Sommerville EW, Ng YS, Alston CL, Dallabona C, Gilberti M, He L, Knowles C, Chin SL, Schaefer AM, Falkous G, Murdoch D, Longman C, de Visser M, Bindoff LA, Rawles JM, Dean JCS, Petty RK, Farrugia ME, Haack TB, Prokisch H, McFarland R, Turnbull DM, Donnini C, Taylor RW, Gorman GS. Sommerville EW, et al. Among authors: bindoff la. JAMA Neurol. 2017 Jun 1;74(6):686-694. doi: 10.1001/jamaneurol.2016.4357. JAMA Neurol. 2017. PMID: 28395030 Free PMC article.
Molecular pathogenesis of polymerase γ-related neurodegeneration.
Tzoulis C, Tran GT, Coxhead J, Bertelsen B, Lilleng PK, Balafkan N, Payne B, Miletic H, Chinnery PF, Bindoff LA. Tzoulis C, et al. Among authors: bindoff la. Ann Neurol. 2014 Jul;76(1):66-81. doi: 10.1002/ana.24185. Epub 2014 Jun 14. Ann Neurol. 2014. PMID: 24841123 Free PMC article.
Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.
Winterthun S, Ferrari G, He L, Taylor RW, Zeviani M, Turnbull DM, Engelsen BA, Moen G, Bindoff LA. Winterthun S, et al. Among authors: bindoff la. Neurology. 2005 Apr 12;64(7):1204-8. doi: 10.1212/01.WNL.0000156516.77696.5A. Neurology. 2005. PMID: 15824347
Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency.
Tiranti V, Jaksch M, Hofmann S, Galimberti C, Hoertnagel K, Lulli L, Freisinger P, Bindoff L, Gerbitz KD, Comi GP, Uziel G, Zeviani M, Meitinger T. Tiranti V, et al. Among authors: bindoff l. Ann Neurol. 1999 Aug;46(2):161-6. doi: 10.1002/1531-8249(199908)46:2<161::aid-ana4>3.0.co;2-o. Ann Neurol. 1999. PMID: 10443880
What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?
Neeve VC, Samuels DC, Bindoff LA, van den Bosch B, Van Goethem G, Smeets H, Lombès A, Jardel C, Hirano M, Dimauro S, De Vries M, Smeitink J, Smits BW, de Coo IF, Saft C, Klopstock T, Keiling BC, Czermin B, Abicht A, Lochmüller H, Hudson G, Gorman GG, Turnbull DM, Taylor RW, Holinski-Feder E, Chinnery PF, Horvath R. Neeve VC, et al. Among authors: bindoff la. Brain. 2012 Dec;135(Pt 12):3614-26. doi: 10.1093/brain/aws298. Brain. 2012. PMID: 23250882 Free PMC article.
Biochemical and molecular studies of mitochondrial function in diabetes insipidus, diabetes mellitus, optic atrophy, and deafness.
Jackson MJ, Bindoff LA, Weber K, Wilson JN, Ince P, Alberti KG, Turnbull DM. Jackson MJ, et al. Among authors: bindoff la. Diabetes Care. 1994 Jul;17(7):728-33. doi: 10.2337/diacare.17.7.728. Diabetes Care. 1994. PMID: 7924787
A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle.
Weber K, Wilson JN, Taylor L, Brierley E, Johnson MA, Turnbull DM, Bindoff LA. Weber K, et al. Among authors: bindoff la. Am J Hum Genet. 1997 Feb;60(2):373-80. Am J Hum Genet. 1997. PMID: 9012410 Free PMC article.
Deficiency of complex II of the mitochondrial respiratory chain in late-onset optic atrophy and ataxia.
Taylor RW, Birch-Machin MA, Schaefer J, Taylor L, Shakir R, Ackrell BA, Cochran B, Bindoff LA, Jackson MJ, Griffiths P, Turnbull DM. Taylor RW, et al. Among authors: bindoff la. Ann Neurol. 1996 Feb;39(2):224-32. doi: 10.1002/ana.410390212. Ann Neurol. 1996. PMID: 8967754
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